Lauren Grote

A novel epileptic encephalopathy mutation in <i>KCNB1</i> disrupts Kv2.1 ion selectivity, expression, and localization

Isabelle Thiffault, David J. Speca, Daniel C. Austin et al. · The Journal of General Physiology · 2015 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

Kristen L. Sund, Sarah Zimmerman, Cameron Thomas et al. · Genetics in Medicine · 2012 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

Claire Guissart, Xénia Latypova, Paul Rollier et al. · The American Journal of Human Genetics · 2018 · 81 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Spectrum of K _V 2.1 Dysfunction in <i>KCNB1</i> ‐Associated Neurodevelopmental Disorders

Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra et al. · Annals of Neurology · 2019 · 69 citations · Full text

Natural Sciences, Neurobiology, Neuroscience +17

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

Isabelle Thiffault, Carol Saunders, Janda Jenkins et al. · BMC Medical Genetics · 2015 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17